John M. Walshe

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We have previously reported the cloning of a gene that encodes a copper transporting P–type ATPase (ATP7B) which is defective in Wilson disease. We have now identified in 58 WND patients, 20 new mutations as well as three of five previously published mutations: 11 small insertions and deletions, seven missense, two nonsense and three splice site mutations.(More)
Wilson's disease should be considered as a possible diagnosis in any child, adolescent or young adult with liver damage without other explanation, especially when haemolysis is present. However, it may also present in adolescents or young adults with neurological signs confined to the motor system. The first diagnostic screening test is the estimation of(More)
Twenty patients with Wilson's disease in whom severe penicillamine intolerance developed have been managed with the orally active chelating agent trientine dihydrochloride (trien). The stage of illness of the patients ranged from the presymptomatic through severe neurological or hepatic disease to the "decoppered" postsymptomatic cases. Trien has proved to(More)
Wilson disease is a disorder of copper transport, resulting in neurological and hepatic damage due to copper toxicity. We have recently identified > 20 mutations in the copper-transporting ATPase defective in this disease. Given the difficulties of searching for mutations in a gene spanning > 80 kb of genomic DNA, haplotype data are important as a guide to(More)
To discover the earliest symptoms and signs of neurological Wilson's disease we analysed the case histories of 136 patients who were seen between 1955-87: patients with hepatic or presymptomatic Wilson's disease were excluded from this series. Thirty one patients (23%) gave a history of an episode of liver damage. The onset of symptoms ranged from nine to(More)
In 51 families with Wilson disease, we have studied DNA haplotypes of dinucleotide repeat polymorphisms (CA repeats) in the 13q14.3 region, to examine these markers for association with the Wilson disease gene (WND). In addition to a marker (D13S133) described elsewhere, we have developed three new highly polymorphic markers (D13S314, D13S315, and D13S316)(More)